Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study

Tomokazu Kimizu; Shinobu Ida; Keisuke Oki; Morimasa Shima; Shizuka Nishimoto; Ken Nakajima; Tae Ikeda; Yukiko Mogami; Keiko Yanagihara; Keiko Matsuda; Eriko Nishi; Yuiko Hasegawa; Masatoshi Nozaki; Hiroshi Fujita; Akemi Irie; Toru Katayama; Nobuhiko Okamoto; Kohsuke Imai; Hisahide Nishio; Yasuhiro Suzuki

doi:10.1016/j.braindev.2023.03.004

Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study

Brain Dev. 2023 Aug;45(7):363-371. doi: 10.1016/j.braindev.2023.03.004. Epub 2023 Mar 25.

Authors

Tomokazu Kimizu¹, Shinobu Ida², Keisuke Oki³, Morimasa Shima³, Shizuka Nishimoto³, Ken Nakajima³, Tae Ikeda³, Yukiko Mogami³, Keiko Yanagihara³, Keiko Matsuda⁴, Eriko Nishi⁴, Yuiko Hasegawa⁴, Masatoshi Nozaki⁵, Hiroshi Fujita², Akemi Irie², Toru Katayama², Nobuhiko Okamoto⁴, Kohsuke Imai⁶, Hisahide Nishio⁷, Yasuhiro Suzuki³

Affiliations

¹ Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan. Electronic address: kimizu@wch.opho.jp.
² Department of Laboratory Medicine, Osaka Women's and Children's Hospital, Izumi, Japan.
³ Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
⁴ Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
⁵ Department of Neonatal Medicine, Osaka Women's and Children's Hospital, Izumi, Japan.
⁶ Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
⁷ Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan.

PMID: 36973114
DOI: 10.1016/j.braindev.2023.03.004

Abstract

Objective: This study aimed to establish an optional newborn screening program for spinal muscular atrophy (SMA-NBS) in Osaka.

Methods: A multiplex TaqMan real-time quantitative polymerase chain reaction assay was used to screen for SMA. Dried blood spot samples obtained for the optional NBS program for severe combined immunodeficiency, which covers about 50% of the newborns in Osaka, were used. To obtain informed consent, participating obstetricians provided information about the optional NBS program to all parents by giving leaflets to prospective parents and uploading the information onto the internet. We prepared a workflow so that babies that were diagnosed with SMA through the NBS could be treated immediately.

Results: From 1 February 2021 to 30 September 2021, 22,951 newborns were screened for SMA. All of them tested negative for survival motor neuron (SMN)1 deletion, and there were no false-positives. Based on these results, an SMA-NBS program was established in Osaka and included in the optional NBS programs run in Osaka from 1 October 2021. A positive baby was found by screening, diagnosed with SMA (the baby possessed 3 copies of the SMN2 gene and was pre-symptomatic), and treated immediately.

Conclusion: The workflow of the Osaka SMA-NBS program was confirmed to be useful for babies with SMA.

Keywords: Early treatment; Gene replacement therapy; Newborn screening; Spinal muscular atrophy; Survival motor neuron gene.

MeSH terms

East Asian People
Humans
Infant, Newborn
Japan
Muscular Atrophy, Spinal* / diagnosis
Muscular Atrophy, Spinal* / genetics
Neonatal Screening* / methods
Pilot Projects
Prospective Studies
Survival of Motor Neuron 1 Protein / genetics

Substances

Survival of Motor Neuron 1 Protein
SMN1 protein, human